gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17544301G>T , CM000673.2:g.17544301G>T | GRCh38 |
| NC_000011.9:g.17565848G>T , CM000673.1:g.17565848G>T | GRCh37 |
| NC_000011.8:g.17522424G>T | NCBI36 |
| NG_011883.1:g.5116C>A | |
| NG_033191.1:g.1929G>T | |
| NG_011883.2:g.5116C>A | |
| NG_033191.2:g.1929G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.7C>A MANE Select | ENSP00000005226.7:p.Arg3= | |
| ENST00000318024.9:c.7C>A MANE Plus Clinical | ENSP00000317018.4:p.Arg3= | |
| ENST00000005226.11:c.7C>A | ENSP00000005226.7:p.Arg3= | |
| ENST00000318024.8:c.7C>A | ENSP00000317018.4:p.Arg3= | |
| ENST00000526313.5:c.7C>A | ENSP00000432236.1:p.Arg3= | |
| ENST00000527020.5:c.7C>A | ENSP00000436934.1:p.Arg3= | |
| NM_001297764.1:c.7C>A | NP_001284693.1:p.Arg3= | |
| NM_005709.3:c.7C>A | NP_005700.2:p.Arg3= | |
| NM_153676.3:c.7C>A | NP_710142.1:p.Arg3= | |
| NR_123738.1:n.116C>A | ||
| XM_011519831.1:c.7C>A | XP_011518133.1:p.Arg3= | |
| XM_011519832.1:c.7C>A | XP_011518134.1:p.Arg3= | |
| XM_011519833.1:c.7C>A | XP_011518135.1:p.Arg3= | |
| XM_011519834.1:c.7C>A | XP_011518136.1:p.Arg3= | |
| XR_930841.1:n.116C>A | ||
| XR_930842.1:n.116C>A | ||
| XM_011519832.3:c.7C>A | XP_011518134.1:p.Arg3= | |
| XM_011519834.2:c.7C>A | XP_011518136.1:p.Arg3= | |
| XM_017017072.1:c.7C>A | XP_016872561.1:p.Arg3= | |
| XM_017017073.1:c.7C>A | XP_016872562.1:p.Arg3= | |
| XM_017017074.1:c.7C>A | XP_016872563.1:p.Arg3= | |
| XM_017017075.1:c.7C>A | XP_016872564.1:p.Arg3= | |
| XR_001747717.2:n.116C>A | ||
| NM_153676.4:c.7C>A MANE Select | NP_710142.1:p.Arg3= | |
| NM_001297764.2:c.7C>A | NP_001284693.1:p.Arg3= | |
| NM_005709.4:c.7C>A MANE Plus Clinical | NP_005700.2:p.Arg3= | |
| NR_123738.2:n.116C>A |